List of variants in gene LCA5 studied for Leber congenital amaurosis

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP
NM_001122769.3(LCA5):c.*22dup	rs767286706
NM_001122769.3(LCA5):c.*35del	rs747368961
NM_001122769.3(LCA5):c.-251G>A	rs886061793
NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter)	rs765473119
NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter)	rs766143193
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter)	rs781035395
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)	rs121918165
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)	rs866395428

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